Variant report

Variant	rs2085140
Chromosome Location	chr5:42976475-42976476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42975954..42977649-chr5:43041510..43043322,2	K562	blood:
2	chr5:42969037..42971723-chr5:42975649..42977780,2	K562	blood:

Variant related genes	Relation type
ENSG00000215068	Chromatin interaction
ENSG00000177721	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10057416	0.91[EUR][1000 genomes]
rs10071470	0.83[EUR][1000 genomes]
rs10071534	0.83[EUR][1000 genomes]
rs10077219	0.87[EUR][1000 genomes]
rs12110284	0.83[EUR][1000 genomes]
rs13357845	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs16872880	0.83[EUR][1000 genomes]
rs16872890	0.83[EUR][1000 genomes]
rs16872892	0.83[EUR][1000 genomes]
rs16872913	0.83[EUR][1000 genomes]
rs16872933	0.83[EUR][1000 genomes]
rs2603638	1.00[AMR][1000 genomes]
rs28490330	0.87[EUR][1000 genomes]
rs28520523	1.00[EUR][1000 genomes]
rs28609175	0.87[EUR][1000 genomes]
rs41428644	0.83[EUR][1000 genomes]
rs55881014	0.83[EUR][1000 genomes]
rs56962140	0.92[EUR][1000 genomes]
rs57694037	0.83[EUR][1000 genomes]
rs58193290	0.83[EUR][1000 genomes]
rs585302	0.84[EUR][1000 genomes]
rs59119749	0.83[EUR][1000 genomes]
rs60196651	0.83[EUR][1000 genomes]
rs60859843	0.92[EUR][1000 genomes]
rs673855	0.87[EUR][1000 genomes]
rs6859319	0.92[EUR][1000 genomes]
rs6867941	0.92[EUR][1000 genomes]
rs6869034	0.83[EUR][1000 genomes]
rs6882380	0.83[EUR][1000 genomes]
rs6886261	0.82[AFR][1000 genomes]
rs6890021	0.92[EUR][1000 genomes]
rs6895961	0.92[EUR][1000 genomes]
rs6898323	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73090747	0.92[EUR][1000 genomes]
rs73751285	0.83[EUR][1000 genomes]
rs7720810	0.91[EUR][1000 genomes]
rs7725727	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7730865	0.92[EUR][1000 genomes]
rs7735821	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9292865	0.81[AFR][1000 genomes]
rs936071	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	esv1813779	chr5:42906572-42992040	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
9	nsv1020910	chr5:42929799-43000021	Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv537738	chr5:42929799-43000021	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
12	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
13	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
14	nsv881436	chr5:42967215-43008917	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
15	nsv880447	chr5:42967215-43030798	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42954800-42982200	Weak transcription	HUVEC	blood vessel
2	chr5:42962200-42984400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:42967000-42985600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:42969400-42985400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:42970600-42977600	Weak transcription	Spleen	Spleen
6	chr5:42970800-42988400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:42971000-42982400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:42971000-42984400	Weak transcription	Primary B cells from cord blood	blood
9	chr5:42971000-42985400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:42971400-42979200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:42971800-42978000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:42972400-42982600	Weak transcription	NHDF-Ad	bronchial
13	chr5:42972800-42985200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:42973200-42985600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:42974000-42982400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:42975000-42983000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:42975000-42984400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr5:42975200-42982200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:42975200-42982600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:42975200-42983200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:42975200-42983200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:42975200-42984400	Weak transcription	HSMM	muscle
23	chr5:42975200-42984400	Weak transcription	NH-A	brain
24	chr5:42975200-42985200	Weak transcription	Thymus	Thymus
25	chr5:42975200-42987600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:42975400-42982600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:42975400-42985200	Weak transcription	Primary T cells from cord blood	blood

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